Publications:

Functional characterization of SMARCA4 variants identified by targeted exome-sequencing of 131,668 cancer patients.

Nature Communications

Fernando, Tharu M TM; Piskol, Robert R; Bainer, Russell R; Sokol, Ethan S ES; Trabucco, Sally E SE; Zhang, Qing Q; Trinh, Huong H; Maund, Sophia S; Kschonsak, Marc M; Chaudhuri, Subhra S; Modrusan, Zora Z; Januario, Thomas T; Yauch, Robert L RL

Publication Date: 2020-11-03

Variant appearance in text: SMARCA4: L893R

PubMed Link: 33144586

Variant Present in the following documents:

• 41467_2020_19402_MOESM4_ESM.xlsx, sheet 1

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Clinical whole genome sequencing as a first-tier test at a resource-limited dysmorphology clinic in Mexico.

Npj Genomic Medicine

Scocchia, Alicia A; Wigby, Kristen M KM; Masser-Frye, Diane D; Del Campo, Miguel M; Galarreta, Carolina I CI; Thorpe, Erin E; McEachern, Julia J; Robinson, Keisha K; Gross, Andrew A; , ; Ajay, Subramanian S SS; Rajan, Vani V; Perry, Denise L DL; Belmont, John W JW; Bentley, David R DR; Jones, Marilyn C MC; Taft, Ryan J RJ

Publication Date: 2019

Variant appearance in text: SMARCA4: 2678T>G; Leu893Arg

PubMed Link: 30792901

Variant Present in the following documents:

• Main text
• 41525_2018_Article_76.pdf

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